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Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Greenlees, Rebecca; Mihelec, Marija; Yousoof, Saira; Speidel, Daniel; Wu, Selwin K; Rinkwitz, Silke; Prokudin, Ivan; Perveen, Rahat; Cheng, Anson; Ma, Alan; Nash, Benjamin; Gillespie, Rachel; Loebel, David A F; Clayton-Smith, Jill; Lloyd, I Christopher; Grigg, John R; Tam, Patrick P L; Yap, Alpha S; Becker, Thomas S; Black, Graeme C M; Semina, Elena; Jamieson, Robyn V.
Afiliación
  • Greenlees R; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Mihelec M; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Yousoof S; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Speidel D; Cell Transformation Group, Children's Medical Research Institute, Sydney Medical School.
  • Wu SK; Division of Cell Biology and Molecular Medicine, Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
  • Rinkwitz S; Brain and Mind Research Institute, Sydney Medical School.
  • Prokudin I; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Perveen R; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester, UK and.
  • Cheng A; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Ma A; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Nash B; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Gillespie R; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester, UK and.
  • Loebel DA; Embryology Unit, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester, UK and Central Manchester Hospital NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, Oxford Rd,
  • Lloyd IC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester, UK and Central Manchester Hospital NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, Oxford Rd,
  • Grigg JR; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia.
  • Tam PP; Embryology Unit, Children's Medical Research Institute, University of Sydney, Sydney, NSW, Australia.
  • Yap AS; Division of Cell Biology and Molecular Medicine, Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia.
  • Becker TS; Brain and Mind Research Institute, Sydney Medical School.
  • Black GC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Oxford Rd, Manchester, UK and Central Manchester Hospital NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, Oxford Rd,
  • Semina E; Medical College of Wisconsin, Milwaukee, WI, USA.
  • Jamieson RV; Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia, rjamieson@cmri.org.au.
Hum Mol Genet ; 24(20): 5789-804, 2015 Oct 15.
Article en En | MEDLINE | ID: mdl-26231217
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Citoesqueleto / Catarata / Anomalías del Ojo / Polaridad Celular / Proteínas Activadoras de GTPasa / Proteínas de Pez Cebra / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Citoesqueleto / Catarata / Anomalías del Ojo / Polaridad Celular / Proteínas Activadoras de GTPasa / Proteínas de Pez Cebra / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Australia